Concurrent Identification of Novel EGFRSEPT14 Fusion and ETV6RET Fusion in Secretory Carcinoma of the Salivary Gland

  • Margaret BlackEmail author
  • Cheng Z. Liu
  • Maristela Onozato
  • Anthony John Iafrate
  • Farbod Darvishian
  • George Jour
  • Paolo Cotzia
Case Report


Salivary gland secretory carcinoma, also termed mammary analogue secretory carcinoma (MASC), is a recently described salivary gland neoplasm with characteristic histomorphologic findings similar to those of secretory carcinoma of the breast and harboring recurrent ETV6NTRK3 fusions. Recent findings have expanded the molecular profile of salivary gland secretory carcinoma to include multiple novel ETV6 fusion partners, including RET, MET, and MAML3. Here, we report a case of cystic MASC with cribriform and papillary histology harboring two gene fusions, ETV6–RET and EGFR–SEPT14, identified by targeted RNA sequencing. The presence of the rearrangements was confirmed by FISH, RT-PCR, and Sanger sequencing. This is the first EGFR–SEPT14 fusion reported in secretory carcinoma as a single event or in association with an ETV6 rearrangement. This finding adds to the expanding molecular profile of this tumor entity, and may translate into novel treatment strategies.


Secretory carcinoma Mammary analogue secretory carcinoma Salivary gland carcinoma ETV6 fusion EGFR–SEPT14 




Compliance with Ethical Standards

Conflict of interest

The authors report no conflicts of interests.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of PathologyNew York University Langone HealthNew YorkUSA
  2. 2.Department of PathologyMassachusetts General HospitalBostonUSA

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